Related Gene(s): ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM*, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53
Breast cancer is the most common cancer in women in developed countries, affecting about 1 in 8 (12.5%) women in their lifetime. The National Cancer Institute (NCI) estimates that approximately 246,660 new cases of female breast cancer and 2,600 new cases of male breast cancer will be diagnosed in the U.S. in 2016. The majority of breast cancers are sporadic, but 5-10% are due to inherited causes. Hereditary breast cancer tends to occur earlier in life than non-inherited sporadic cases, and is more likely to occur in both breasts. The highly penetrant genes, BRCA1 and BRCA2, appear to be responsible for around half of hereditary breast cancer. However, additional genes have been discovered that are associated with increased breast cancer risk as well. Mutations in the genes included in OvaNext can confer an estimated 20–87% lifetime risk for breast cancer. Some of these genes have also been associated with increased risks for other cancers, such as pancreatic cancer with PALB2, ovarian cancer with BRCA1, BRCA2, RAD51C, and others, and sarcoma with TP53.
Ovarian cancer is the fifth most common cancer among women in developed countries, affecting approximately 1 in 71 (1.4%) women in their lifetime. The NCI estimates that approximately 22,280 new cases of ovarian cancer will be diagnosed and 14,240 ovarian cancer deaths will occur in the U.S. in 2016. It is the leading cause of death from gynecologic malignancy, usually characterized by advanced presentation with regional dissemination in the peritoneal cavity. Epithelial ovarian cancer is the most common form, and up to 25% of epithelial cases may be due to inherited gene mutations. BRCA1 and BRCA2 are the most common causes of hereditary ovarian cancer, but several other genes are associated with increased ovarian cancer risk as well.
Uterine cancer affects about 1 in 38 (2.6%) women in their lifetime. The NCI estimates that approximately 60,050 new cases of uterine cancer will be diagnosed and 10,470 uterine cancer deaths will occur in the U.S. in 2016. Increased risk for uterine cancer has been identified in a number of hereditary cancer syndromes, including Lynch syndrome and Cowden syndrome.
As the best approach to genetic testing for individuals with these cancer types is not always clear, OvaNext may be an appropriate testing strategy.
This test will be available soon. For additional information, please contact us.